Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000150793 | SCV000198302 | uncertain significance | not specified | 2015-10-04 | criteria provided, single submitter | clinical testing | The p.Gln5781Arg variant in GPR98 has not been previously reported in individual s with hearing loss, but has been identified in 2/11342 of Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org;rs369717 492). Computational prediction tools and conservation analyses suggest that the Gln5781Arg variant may not impact the protein, though this information is not pr edictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Gln5781Arg variant is uncertain. |
Eurofins Ntd Llc |
RCV000724420 | SCV000232831 | uncertain significance | not provided | 2015-01-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000724420 | SCV001393643 | likely benign | not provided | 2023-11-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000724420 | SCV001777656 | uncertain significance | not provided | 2023-06-23 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV003298156 | SCV003996272 | uncertain significance | Inborn genetic diseases | 2023-05-09 | criteria provided, single submitter | clinical testing | The c.17342A>G (p.Q5781R) alteration is located in exon 80 (coding exon 80) of the ADGRV1 gene. This alteration results from a A to G substitution at nucleotide position 17342, causing the glutamine (Q) at amino acid position 5781 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |